CMT-SORD

CMT-SORD is also called “Sorbitol Dehydrogenase Deficiency.” This unique type of CMT is caused by autosomal recessive mutations in the SORD gene.

Clinical Basics

Subtype: CMT-SORD
Classification: Unclassified Subtype
Subtype Alias: Sorbitol Dehydrogenase Deficiency
Neuropathy Type: Axonal
Inheritance Pattern: Autosomal Recessive
Symptoms: CMT-SORD Symptoms

Genetic Context

HGNC-Approved Gene Symbol: SORD
Gene Full Name: Sorbitol Dehydrogenase
HGNC Gene Alias(es): SDH, XDH
Chromosome: 15q21.1
Zygosity of Responsible Variant: Homozygous or Compound Heterozygous
Mitochondrial Involvement: No
ClinVar Pathogenic Variants: View CMT-SORD ClinVar Variants
ClinGen Curation: View SORD ClinGen Curation

More Info

Research Opportunity: CMT Natural History Study

Original Discovery Publication

Publication Title: Biallelic Mutations in SORD Cause a Common and Potentially Treatable Hereditary Neuropathy with Implications for Diabetes.
Authors: Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., Feely, S., Athanasiou-Fragkouli, A., Haridy, N. A., Inherited Neuropathy Consortium, Isasi, R., Khan, A., Laurà, M., Magri, S.,Pipis, M., Pisciotta, C., Powell, E., Rossor, A.M., Saveri, P., Sowden, J.E., Tozza, S., Vandrovcova, J., Dallma, J., Grignani, E., Marchioni, E., Scherer, S.S., Tang, B., Lin, Z., Al-Ajmi, A., Schüle, R., Synofzik, M., Maisonobe, T., Stojkovic, T., Auer-Grumbach, M., Abdelhamed, M.A., Hamed, S.A., Zhang, R., Mangelli, F., Santoro, L., Taroni, F., Pareyson, D., Houlden, H., Herrmann, D.N., Reilly, M.M., Shy, M.E., Zhai, R.G., Züchner, S.
Publication Date: May 4, 2020
DOI: 10.1038/s41588-020-0615-4

Updated: February 7, 2026 | By: K. Raymond

The Dorsal Root

When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Illustrated graphic showing large ‘404’ numerals with people interacting with data screens and servers, alongside text reading ‘CMT Genetic Testing Error 404: Gene Not Found’ and ‘Examining Why Less Than Half of All Who Have Charcot-Marie-Tooth Disease Are Not Able to Obtain Genetic Confirmation of Their Disease.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.

Illustrated cover graphic showing a split landform with branching directional arrows, two people with question marks above their heads, and the title ‘SORD Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype.

CMT-SORD: What Is This Unique CMT Subtype?

CMT-SORD is a newly discovered CMT subtype driven by toxic sorbitol accumulation. This article explains how "SORD" works, why this subtype is different, and how it led to the fastest-moving therapeutic program in CMT history.